{
  "id": 2713,
  "label": "isolated microphthalmia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000062",
  "properties": {
    "xrefs": [
      "DOID:0080637",
      "OMIMPS:251600"
    ],
    "synonyms": [
      "microphthalmia, isolated",
      "nonsyndromic microphthalmia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "A microphthalmia that is not part of a larger syndrome."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 20367,
      "label": "microphthalmia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24305
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10629",
          "EFO:0005569",
          "HP:0000568",
          "ICD9:743.1",
          "ICD9:743.10",
          "ICD9:743.11",
          "MEDGEN:10033",
          "MESH:D008850",
          "NCIT:C98989",
          "SCTID:204108000",
          "UMLS:C0026010"
        ],
        "synonyms": [
          "microphthalmia",
          "microphthalmos",
          "nanophthalmos"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Congenital or developmental anomaly in which the eyeballs are abnormally small."
      },
      "child_count": 5,
      "reference_id": "MONDO:0021129"
    }
  ],
  "children": [
    {
      "id": 2755,
      "label": "microphthalmia, isolated, with coloboma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2713,
        3690,
        17209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003644",
          "MEDGEN:444071",
          "MESH:C537463",
          "OMIMPS:300345",
          "Orphanet:98938",
          "UMLS:C2931500",
          "icd11.foundation:1208828500"
        ],
        "synonyms": [
          "MAC",
          "colobomatous microphthalmia",
          "microphthalmia with colobomatous cyst",
          "microphthalmia-anophthalmia-coloboma syndrome",
          "MCOPCB1",
          "microphthalmia associated with colobomatous cyst",
          "microphthalmos bilateral, colobomatous orbital cyst"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma."
      },
      "child_count": 36,
      "reference_id": "MONDO:0000170"
    },
    {
      "id": 9321,
      "label": "microphthalmia, isolated, with cataract 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2713,
        17209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009610",
          "MEDGEN:320475",
          "MESH:C563582",
          "OMIM:156850",
          "UMLS:C1834919"
        ],
        "synonyms": [
          "MCOPCT1",
          "microphthalmia, isolated, with cataract 1",
          "cataract, congenital, with microphthalmia",
          "congenital cataract with microphthalmia",
          "microphthalmia with cataract 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007995"
    },
    {
      "id": 10850,
      "label": "isolated microphthalmia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2713
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060840",
          "MEDGEN:381546",
          "MESH:C565377",
          "OMIM:251600",
          "UMLS:C1855052"
        ],
        "synonyms": [
          "MCOP1",
          "isolated microphthalmia type 1",
          "Mcop",
          "anophthalmia, clinical, isolated",
          "microphthalmia, isolated 1",
          "microphthalmos, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A microphthalmia that has material basis in variation in the chromosomal region 14q32."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009631"
    },
    {
      "id": 13460,
      "label": "isolated microphthalmia 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2713,
        17209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060839",
          "GARD:0024863",
          "MEDGEN:351204",
          "MESH:C566446",
          "OMIM:610093",
          "UMLS:C1864720"
        ],
        "synonyms": [
          "MCOP2",
          "VSX2 isolated microphthalmia",
          "isolated microphthalmia caused by mutation in VSX2",
          "isolated microphthalmia type 2",
          "microphthalmia, isolated type 2",
          "anophthalmia, clinical, isolated",
          "microphthalmia, isolated 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0012409"
    },
    {
      "id": 13651,
      "label": "isolated microphthalmia 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2713,
        17209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060842",
          "GARD:0024876",
          "MEDGEN:1823955",
          "MESH:C567025",
          "OMIM:611038",
          "UMLS:C5774181"
        ],
        "synonyms": [
          "MCOP3",
          "RAX isolated microphthalmia",
          "isolated microphthalmia 3",
          "isolated microphthalmia caused by mutation in RAX",
          "isolated microphthalmia caused by mutation in rax",
          "isolated microphthalmia type 3",
          "microphthalmia, isolated type 3",
          "rax isolated microphthalmia",
          "microphthalmia, isolated 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012604"
    },
    {
      "id": 13652,
      "label": "isolated microphthalmia 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2713
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060837",
          "GARD:0017205",
          "MEDGEN:410021",
          "MESH:C567024",
          "OMIM:611040",
          "Orphanet:251279",
          "UMLS:C1970236"
        ],
        "synonyms": [
          "MCOP5",
          "MFRP isolated microphthalmia",
          "Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome",
          "Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome",
          "isolated microphthalmia 5",
          "isolated microphthalmia caused by mutation in MFRP",
          "isolated microphthalmia type 5",
          "microphthalmia, isolated type 5",
          "microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome",
          "microphthalmia-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome",
          "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disk drusen",
          "microphthalmia, isolated 5",
          "microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic Disc drusen"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012605"
    },
    {
      "id": 14167,
      "label": "isolated microphthalmia 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2713,
        17209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060836",
          "GARD:0024901",
          "MEDGEN:414346",
          "MESH:C567757",
          "OMIM:613094",
          "UMLS:C2751307"
        ],
        "synonyms": [
          "GDF6 isolated microphthalmia",
          "MCOP4",
          "isolated microphthalmia caused by mutation in GDF6",
          "isolated microphthalmia type 4",
          "microphthalmia, isolated type 4",
          "microphthalmia, isolated 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013130"
    },
    {
      "id": 14328,
      "label": "isolated microphthalmia 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2713,
        17209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060835",
          "GARD:0018628",
          "MEDGEN:462107",
          "OMIM:613517",
          "UMLS:C3150757"
        ],
        "synonyms": [
          "MCOP6",
          "PRSS56 isolated microphthalmia",
          "PRSS56-related nanophthalmos",
          "isolated microphthalmia caused by mutation in PRSS56",
          "isolated microphthalmia type 6",
          "microphthalmia, isolated type 6",
          "microphthalmia, isolated 6",
          "microphthalmia, posterior nonsyndromic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene. This disease includes cases diagnosed as microphthalmos (specifically as posterior microphthalmos) and nanophthalmos."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013293"
    },
    {
      "id": 14410,
      "label": "isolated microphthalmia 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2713,
        17209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060838",
          "GARD:0024917",
          "MEDGEN:462319",
          "OMIM:613704",
          "UMLS:C3150969"
        ],
        "synonyms": [
          "GDF3 isolated microphthalmia",
          "MCOP7",
          "isolated microphthalmia caused by mutation in GDF3",
          "isolated microphthalmia type 7",
          "microphthalmia, isolated type 7",
          "microphthalmia, isolated 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013377"
    },
    {
      "id": 15060,
      "label": "isolated microphthalmia 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2713,
        17209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060841",
          "GARD:0024967",
          "MEDGEN:767438",
          "OMIM:615113",
          "UMLS:C3554524"
        ],
        "synonyms": [
          "ALDH1A3 isolated microphthalmia",
          "MCOP8",
          "isolated microphthalmia 8",
          "isolated microphthalmia caused by mutation in ALDH1A3",
          "isolated microphthalmia type 8",
          "microphthalmia, isolated type 8",
          "microphthalmia, isolated 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014050"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 20367,
      "label": "microphthalmia"
    }
  ]
}